Beyond The Diagnosis: Prader Willi Syndrome And Scoliosis

Prader-Willi syndrome (PWS) is a rare genetic condition that affects the physical stature and behaviour of the affected individual. It is noticed straight after birth due to weak muscles and a floppy body, but it can also be detected during pregnancy using prenatal screenings. The cause of this genetic condition is the missing genetic material on chromosome 15. Missing genetic material can lead to major differences in the ability of the foetus to develop fully, resulting in abnormalities in the body. 

Scoliosis is a condition that affects the spinal cord, curving the spine, which causes uneven shoulders and stature. There are no known causes of scoliosis, but it is linked to many health issues, for example, exercise and diet. Less commonly, scoliosis can be caused by improper formation of the bones during pregnancy or any nerve or muscle conditions. Treatment differs for different age groups and the severity of the condition; sometimes, surgery may be available for a small number of patients. 

Understanding prader-willi syndrome

PWS has many physical and behavioural symptoms that are present in patients from birth. 

The symptoms of Prader-Willi Syndrome include:

• Excessive eating and appetite can lead to dangerous weight gain
• Short stature
• Hypotonia: floppiness in the body due to lack of muscles
• Learning difficulties: Patients diagnosed with this syndrome have a lower IQ level and difficulties with short-term memory
• Behavioural challenges, such as sudden outbursts, frustration and anxiety

These symptoms are not life-threatening, but it does have a massive effect on a patient's daily life. Patients with this syndrome manage this condition by managing a healthy diet by avoiding high-calorie and sweet meals. At birth, feeding children may be difficult, so a tube may be inserted into their nose to feed them. Another important factor is exercise; having patients indulge in exercise at least one hour per day will help maintain a healthy weight. 

Hormone treatments

Using hormones is recommended for children with PWS to increase muscle size and strength, energy levels and alter facial features. Children with PWS usually have downturned lips and narrow nose bridges, taking hormones to help with changing features.

Behaviour challenges

Children with PWS have low moods and sudden changes, so maintaining a routine can help calm their anxiety when facing sudden changes to their daily lives. Remaining calm and acknowledging their emotional distress helps them come to terms with the importance of discussing emotions and stresses. 

Scoliosis  

The treatment of scoliosis varies between children and adults, depending on the severity of the curvature and the symptoms experienced. For children, mild scoliosis typically requires regular monitoring every 4-6 months, while moderate scoliosis may be managed with bracing to prevent further progression. Severe cases need surgery, such as spinal fusion, to help manage the effects. Adults with mild scoliosis also undergo regular check-ups, while physical therapy and pain management techniques, including medications and injections, are common for moderate cases. Severe scoliosis in adults may require surgery, depending on the patient. Monitoring daily life for individuals with scoliosis involves regular healthcare visits, maintaining physical activity, managing posture, incorporating pain management techniques, and seeking emotional support. These combined strategies help individuals effectively manage their condition and maintain an active and fulfilling life.

The Link between scoliosis and PWS

Scoliosis is a common musculoskeletal symptom of Prader-Willi Syndrome (PWS), a disorder that is strongly related to scoliosis. Up to 60–80% of people with PWS may eventually develop scoliosis, according to studies. This high prevalence is caused by several causes, including muscle hypotonia, or low muscle tone, which is a hallmark of PWS, especially in the early stages of life. This hypotonia leads to inadequate muscle support around the spine, increasing susceptibility to abnormal curvatures. Additionally, PWS affects growth and development, often resulting in short stature and altered growth patterns. Growth hormone deficiency, commonly seen in PWS, further contributes to the risk of developing scoliosis. Although growth hormone therapy can improve growth and body composition, it can sometimes accelerate scoliosis progression in these individuals.

Another significant factor is obesity, a frequent feature of PWS due to an insatiable appetite and metabolic abnormalities. Excess body weight causes immense stress on the spine, potentially worsening scoliosis. Genetic factors also play a role, as PWS is caused by abnormalities on chromosome 15, and there may be genetic predispositions to scoliosis within this population. Managing scoliosis in individuals with PWS involves regular monitoring, physical therapy, and, in some cases, bracing or surgical intervention. A multidisciplinary approach is essential to address the unique needs of individuals with PWS, ensuring early diagnosis and intervention to manage symptoms and improve quality of life. Regular medical evaluations are crucial in providing comprehensive care for patients with PWS, addressing the various complications, including scoliosis.

Real-life experiences

Robert’s story

A blog published on the Gillette Children’s Hospital website talks about the daily life of Robert, a child with PWS, from the perspective of his mother. She has been finding it difficult to manage his condition from the moment he was born. His parents did some research online to learn more about his condition, found the clinic at Gillette Hospital and booked an appointment right away. They consulted specialists to receive help with his diet and nutrition, and thus, Robert started his hormone therapy from the age of 7 to help him grow more muscle mass and promote growth. With help, Robert is now 30 and working twice a week, living an independent life. This story shows that people with this condition can live a self-sufficient life. 

Angela’s story

Angela was diagnosed with Scoliosis at the age of 13 and was seen at 6-month intervals before her surgery was performed. She describes her perspective of receiving treatment and how scary it was for her to go through with the surgery. She states that vitamins and iron supplements became a staple in her daily life before receiving blood donations in preparation for the surgery. Now she is a wife and a mother of 2 children living comfortably with her successful surgery. She faced many downs with her diagnosis and treatment process, but in the end, she received a successful surgery, which inspired her to go to nursing school. 

Everyone's story is different, and people have different treatments and management methods to help them live more comfortably in their everyday lives. 

Summary

Both of these conditions affect the daily lives of patients, thus, it is important for the people around them to learn more about their conditions so they can help ease their daily challenges and difficulties. 

Raising awareness and support for these patients allows early diagnosis and intervention to improve symptoms and manage complications. Furthermore, awareness allows both the public and healthcare professionals to learn more about this condition, increasing the likelihood of recognising the conditions earlier.